Article
Nonsense-mediated mRNA decay due to a CACNA1C splicing mutation in a patient with Brugada syndrome.
Heart rhythm - 1 Apr 2014
Fukuyama Megumi, Ohno Seiko, Wang Qi, Shirayama Takeshi, Itoh Hideki, Horie Minoru
Abstract excerpt
BACKGROUND: Brugada syndrome (BrS) is an inherited cardiac arrhythmia associated with sudden death due to ventricular fibrillation. Mutations in genes related to the cardiac L-type calcium channel have been reported to be causative of BrS. Generally, the messenger RNA (mRNA) that contains a nonsense mutation is rapidly degraded via its decay pathway, which is known as nonsense-mediated mRNA decay (NMD)....
Topics
- Adult
- Brugada Syndrome
- Calcium Channels, L-Type
- Humans
- Male
- Mutation
- Nonsense Mediated mRNA Decay
- RNA Splicing
- Reverse Transcriptase Polymerase Chain Reaction